H16P (p.His16Pro) variant of HMGCR (P04035)
H16P (p.His16Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
H16P (p.His16Pro) variant details
- p.His16Pro
- gnomAD rs1201009521
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.74
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available